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Article

Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.

The Journal of clinical investigation - 1 Mar 1993

van Weely S, van den Berg M, Barranger J A, Sa Miranda M C, Tager J M, Aerts J M

Abstract excerpt

The properties of control and 370Asn-->Ser glucocerebrosidase, the frequently encountered mutated form of the enzyme in type 1 Gaucher disease, were studied in vitro as well as in situ. The catalytic properties of purified 370Asn-->Ser glucocerebrosidase were highly dependent on the assay conditions. The enzyme was deficient in activity towards substrate and in reactivity with the irreversible inhibitor...

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Identifiers

PMID: 8450045
DOI: 10.1172/JCI116276
PMCID: PMC288073

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